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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACER2 Gene

protein-coding   GIFtS: 53
GCID: GC09P019408

Alkaline Ceramidase 2

(Previous name: N-acylsphingosine amidohydrolase 3-like)
(Previous symbol: ASAH3L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alkaline Ceramidase 21 2     haCER22 3
ASAH3L1 2 3     ALKCDase22
N-Acylsphingosine Amidohydrolase 3-Like1 3     Ceramide Hydrolase2
Alkaline CDase 22 3     EC 3.5.1.233
AlkCDase 22 3     Acylsphingosine Deacylase 3-Like3

External Ids:    HGNC: 236751   Entrez Gene: 3404852   Ensembl: ENSG000001770767   OMIM: 6134925   UniProtKB: Q5QJU33   

Export aliases for ACER2 gene to outside databases

Previous GC identifer: GC09P019400


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACER2 Gene:
The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its
precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to
generate sphingosine (Xu et al., 2006 (PubMed 16940153)).(supplied by OMIM, Jul 2010)

GeneCards Summary for ACER2 Gene: 
ACER2 (alkaline ceramidase 2) is a protein-coding gene. Diseases associated with ACER2 include lipogranulomatosis, and farber lipogranulomatosis, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include dihydroceramidase activity and ceramidase activity. An important paralog of this gene is ACER1.

UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3
Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain
ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are
good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The
substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0),
C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides >
D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the
Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine.
Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation
and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate

Gene Wiki entry for ACER2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACER2 gene promoter:
         Elk-1   USF1   GATA-3   AP-1   LCR-F1   GATA-1   GATA-2   USF-1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACER2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACER2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACER2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p22.1   Ensembl cytogenetic band:  9p22.1   HGNC cytogenetic band: 9p21.3

ACER2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACER2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P019408:  view genomic region     (about GC identifiers)

Start:
19,408,925 bp from pter      End:
19,452,500 bp from pter
Size:
43,576 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3 (See protein sequence)
Recommended Name: Alkaline ceramidase 2  
Size: 275 amino acids; 31309 Da
Subcellular location: Golgi apparatus membrane; Multi-pass membrane protein
Secondary accessions: A2A3R8 Q569G5 Q5VZR7 Q71RD2
Alternative splicing: 3 isoforms:  Q5QJU3-1   Q5QJU3-2   Q5QJU3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACER2: NX_Q5QJU3

Explore proteomics data for ACER2 at MOPED 

ACER2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

ACER2 Protein Expression

REFSEQ proteins: NP_001010887.2  
ENSEMBL proteins: 
 ENSP00000342609   ENSP00000369735  
Reactome Protein details: Q5QJU3
Human Recombinant Protein Products for ACER2: 
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Cloud-Clone Corp. Proteins for ACER2 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane TAS--
GO:0005794Golgi apparatus IDA16940153
GO:0016021integral to membrane ----
GO:0030173integral to Golgi membrane IDA--

ACER2 for ontologies           About GeneDecksing



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LSBio Antibodies in human, mouse, rat for ACER2 

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
ACER: Alkaline ceramidase

1 InterPro protein domain:
 IPR008901 Ceramidase

Graphical View of Domain Structure for InterPro Entry Q5QJU3

ProtoNet protein and cluster: Q5QJU3

1 Blocks protein domain: IPB008901 Alkaline phytoceramidase

UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3
Similarity: Belongs to the alkaline ceramidase family


ACER2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: ACER2_HUMAN, Q5QJU3
Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain
ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are
good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The
substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0),
C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides >
D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the
Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine.
Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation
and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate
Catalytic activity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
Enzyme regulation: Specifically activated by lumenal, but not cytosolic Ca(2+). Inhibited by Zn(2+) or Cu(2+).
Mg(2+) or Mn(2+) have no effect on ceramidase activity
Biophysicochemical properties: Kinetic parameters: KM=81 uM for D-erythro-C(24:1)-ceramide (at 37 degrees Celsius
and pH 9.0); Vmax=27 pmol/min/mg enzyme with D-erythro-C(24:1)-ceramide as substrate; pH dependence: Optimum pH
is 7.5-9.0;

     Enzyme Number (IUBMB): EC 3.5.1.231

     Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ----
GO:0017040ceramidase activity IDA16940153
GO:0071633dihydroceramidase activity IDA--
     
ACER2 for ontologies           About GeneDecksing


Animal Models:
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACER2 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACER2 

miRNA
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hsa-miR-3673 hsa-miR-125a-5p hsa-miR-188-5p hsa-let-7d hsa-miR-575 hsa-miR-1271 hsa-let-7c hsa-let-7g
SwitchGear 3'UTR luciferase reporter plasmidACER2 3' UTR sequence
Inhib. RNA
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Clone
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER2


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ACER2 About                                                                                                See pathways by source

SuperPathContained pathways About
1Sphingolipid metabolism
Sphingolipid metabolism0.63
Sphingolipid de novo biosynthesis0.47
Sphingolipid metabolism0.63
2Metabolism
Metabolism0.40
Metabolism of lipids and lipoproteins0.34
Metabolic pathways0.40
3sphingosine and sphingosine-1-phosphate metabolism
sphingosine and sphingosine-1-phosphate metabolism

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for ACER2
    sphingosine and sphingosine-1-phosphate metabolism

4        Reactome Pathways for ACER2
    Sphingolipid metabolism
Metabolism
Metabolism of lipids and lipoproteins
Sphingolipid de novo biosynthesis


2         Kegg Pathways  (Kegg details for ACER2):
    Sphingolipid metabolism
Metabolic pathways


ACER2 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACER2

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/21 Interacting proteins for ACER2 (ENSP000003426094) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
InteractantInteraction Details
GeneCardExternal ID(s)
CERKENSP000002162644STRING: ENSP00000216264
DEGS1ENSP000003164764STRING: ENSP00000316476
ENPP7ENSP000003326564STRING: ENSP00000332656
GBAENSP000003145084STRING: ENSP00000314508
SGPP2ENSP000003151374STRING: ENSP00000315137
About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001953negative regulation of cell-matrix adhesion IDA18945876
GO:0006665sphingolipid metabolic process TAS--
GO:0006672ceramide metabolic process IEA--
GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IMP--
GO:0008284positive regulation of cell proliferation IDA16940153

ACER2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACER2

10/123 HMDB Compounds for ACER2 (see all 123)    About this table
CompoundSynonyms CAS #PubMed Ids
3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

Search CenterWatch for drugs/clinical trials and news about ACER2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACER2 gene: 
NM_001010887.2  

Unigene Cluster for ACER2:

Alkaline ceramidase 2
Hs.41379  [show with all ESTs]
Unigene Representative Sequence: AK123581
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000340967(uc003znx.1 uc003zny.1 uc003znz.1) ENST00000380376

miRNA
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8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate ACER2 (see all 29):
hsa-miR-3673 hsa-miR-125a-5p hsa-miR-188-5p hsa-let-7d hsa-miR-575 hsa-miR-1271 hsa-let-7c hsa-let-7g
SwitchGear 3'UTR luciferase reporter plasmidACER2 3' UTR sequence
Inhib. RNA
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACER2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER2
Sirion Biotech Customized lentivirus for stable overexpression of ACER2 
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Additional mRNA sequence: 

AF370405.1 AK123581.1 AY312516.1 BC092487.1 

4 DOTS entries:

DT.105839  DT.40290454  DT.100652251  DT.121154936 

14 AceView cDNA sequences:

AI168043 BX646596 AK123581 BX112888 AF370405 AA309752 BQ081995 CF593785 
AI033878 BX482955 BF839613 R96782 H90930 H90280 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for ACER2    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:                                                      
SP2:              -                                       


ECgene alternative splicing isoforms for ACER2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACER2 expression in normal human tissues (normalized intensities)      ACER2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ACER2 Expression
About this image


ACER2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Heart (Cardiovascular System)
         Endocardium

See ACER2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.41379

UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3
Tissue specificity: Highly expressed in placenta

    SABiosciences Custom PCR Arrays for ACER2
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACER2
In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACER2 gene from 8/16 species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Acer21 , 5 alkaline ceramidase 21, 5 88.48(n)1
93.09(a)1
  4 (40.69 cM)5
2303791  NM_139306.21  NP_647467.11 
 868743965 
chicken
(Gallus gallus)
Aves ACER21 alkaline ceramidase 2 80.85(n)
90.55(a)
  427235  XM_424820.2  XP_424820.2 
lizard
(Anolis carolinensis)
Reptilia ACER26
Uncharacterized protein
88(a)
1 ↔ 1
2(62424966-62450138)
African clawed frog
(Xenopus laevis)
Amphibia Xl.109892 Xenopus laevis transcribed sequence with weak similarity more 75.29(n)    BJ060795.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1003311791 alkaline ceramidase 2-like 73.06(n)
83.39(a)
  100331179  XM_002663031.2  XP_002663077.1 
fruit fly
(Drosophila melanogaster)
Insecta bwa1 brain washing 57.55(n)
49.61(a)
  250736  NM_136176.2  NP_610020.1 
worm
(Caenorhabditis elegans)
Secernentea CELE_W02F12.21 Protein W02F12.2 43.44(n)
29.53(a)
  189124  NM_072296.4  NP_504697.2 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDC16
YPC16
Alkaline dihydroceramidase, involved in sphingolip...
Alkaline ceramidase that also has reverse (CoA-ind...
18(a)
17(a)
many ↔ many
many ↔ many
XVI(383455-384408)
II(596115-597065)


ENSEMBL Gene Tree for ACER2 (if available)
TreeFam Gene Tree for ACER2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for ACER2 gene
ACER12  
1 SIMAP similar gene for ACER2 using alignment to 1 protein entry:     ACER2_HUMAN:
ACER1

ACER2 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for ACER2
PGOHUM00000240501


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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10/1149 SNPs in ACER2 are shown (see all 1149)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs795306551,2
C,F--19406964(+) GGAACC/TACACT 1 -- us2k12Minor allele frequency- T:0.07NA 122
rs1829727831,2
--19407179(+) CACCCC/TAACCG 1 -- us2k10--------
rs1858056531,2
--19407426(+) TGATCC/TGCCTG 1 -- us2k10--------
rs1914986831,2
--19407468(+) CATGAA/GCCACC 1 -- us2k10--------
rs1388608541,2
--19407470(+) TGAGCC/TACCGC 1 -- us2k10--------
rs1419852811,2
--19407484(+) CGGCCC/GTCAAC 1 -- us2k10--------
rs92988001,2
C,F,A,H--19407494(+) CCGCCT/CTTCTT 1 -- us2k1 tfbs324Minor allele frequency- C:0.40NS EA NA WA CSA 2354
rs1446653621,2
--19407581(+) CTTGGA/GTTCTG 1 -- us2k10--------
rs793706331,2
C,F--19407605(+) TTGCCC/TGTAAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs1827762861,2
--19407623(+) GAAGGC/GATAGA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for ACER2 (19408925 - 19452500 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for ACER2:    About this table     
Variant IDTypeSubtypePubMed ID
esv1361979CNV Deletion17803354
esv2738260CNV Deletion23290073
nsv416048CNV Loss16902084
nsv524474CNV Gain19592680
nsv466286CNV Gain19166990
nsv831524CNV Gain+Loss17160897

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613492    OMIM disorders: --

4 diseases for ACER2:    About MalaCards
lipogranulomatosis    farber lipogranulomatosis    retinal degeneration    retinitis

1 disease from the University of Copenhagen DISEASES database for ACER2:
Farber lipogranulomatosis

ACER2 for disorders           About GeneDecksing

Genetic Association Database (GAD): ACER2
Human Genome Epidemiology (HuGE) Navigator: ACER2 (1 document)

Export disorders for ACER2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ACER2 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with ACER2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion. (PubMed id 18945876)1, 2, 3, 9 Sun W.... Mao C. (2009)
  2. Substrate specificity, membrane topology, and activit y regulation of human alkaline ceramidase 2 (ACER2). (PubMed id 20089856)1, 2, 9 Sun W....Mao C. (2010)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  4. Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P. (PubMed id 16940153)1, 2 Xu R.... Mao C. (2006)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
  7. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
  8. Alkaline ceramidase 2 (ACER2) and its product dihydro sphingosine mediate the cytotoxicity of N-(4-hydroxyphenyl)retinamide in tumor cells. (PubMed id 20628055)1 Mao Z....Mao C. (2010)
  9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 340485 HGNC: 23675 AceView: ASAH3L Ensembl:ENSG00000177076 euGenes: HUgn340485
ECgene: ACER2 Kegg: 340485 H-InvDB: ACER2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ACER2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for ACER2 gene:
Search GeneIP for patents involving ACER2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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